A Case of Pallister-Killian Syndrome with Upper Airway Obstruction and Macroglossia with Tumor of the Tongue Base

Abstract

　　Pallister-Killian syndrome is a tetrasomy 12p, an extremely rare congenital anomaly syndrome. It is caused by a chromosomal abnormality due to an extra chromosome consisting of two mirror copies of the short arm（“p”）of chromosome 12. Typical presentations include peculiar facial features, sparse hair, hypotonia, and delayed mental development. In this case report, we describe a case of palatoplasty in a 2-year and 10-month-old female with a cleft palate and macroglossia caused by Pallister-Killian syndrome. The patient was intubated due to symptoms of tongue root subsidence at birth and underwent a tracheostomy to correct her airway obstruction at 21 days of age. An examination of the patient’s DNA using blood cells showed a normal karyotype. No further genetic examinations were performed at the parents’ request. She was diagnosed with Pallister-Killian syndrome clinically based on her facial features and other complications. Her airway expanded slowly as she grew up and this was confirmed by radiographs. In addition, she became capable of speaking a little. A palatoplasty was performed. Significant swelling of the tongue and pharyngeal mucosa was noted intraoperatively. The swelling gradually decreased, and she was discharged without complications. The goal of the next stage is to wean her off her tracheostomy.